http://www.medindia.net/healthnews/Pierre-Robin-Syndrome-news.asp Medindia largest health website in india. en-us Copyright 2012. All Rights Reserved. Fri, 25 May 2012 06:56:10 GMT http://www.medindia.net/news/association-between-genetic-defect-and-heart-malformation-97274-1.htm Mutations in SHP-2 gene disrupts the shape of cardiac muscle cells and thereby result in heart malformation, shows research. The study also shows that treatment with a drug that regulates cell shape rescues the cardiac defect, pointing to therapeutic avenues that could one day benefit Noonan syndrome patients. The results, which were produced in a frog model of the disease, appeared online January 25, 2012, in the journal IDevelopment/I. Genetic studies have shown that SHP-2 plays a critical role in human physiology and disease....]]> http://www.medindia.net/news/association-between-genetic-defect-and-heart-malformation-97274-1.htm http://www.medindia.net/news/Mouse-Model-Gets-Genetically-Corrected-Cleft-Lip-94078-1.htm Genetic methods successfully employed to repair cleft lips in mice embryos specially engineered for the study of cleft lip and cleft palate by the Scientists at Weill Cornell Medical College. The research breakthrough may show the way to prevent or treat the conditions in humans. Cleft lip and cleft palate are among the most common birth defects, with treatment requiring multiple cycles of surgery, speech therapy and orthodontics. To date, there have been very few pre-clinical methods that allow ...]]> http://www.medindia.net/news/Mouse-Model-Gets-Genetically-Corrected-Cleft-Lip-94078-1.htm http://www.medindia.net/news/Scientists-Understand-Gene-Mutation-Behind-Cleft-Palate-Development-74089-1.htm Scientists have found a novel mechanism that explains why a certain gene mutation results in craniofrontonasal syndrome (CFNS), which causes cleft palate and other malformations on the face. Previous studies have revealed that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how. Philipe M. Soriano, Professor, Developmental and Regenerative Biology, and Jeffrey O. Bush, PhD, Postdoctoral Fellow, ...]]> http://www.medindia.net/news/Scientists-Understand-Gene-Mutation-Behind-Cleft-Palate-Development-74089-1.htm http://www.medindia.net/news/US-Woman-With-Genetic-Defect-Looking-For-Healthcare-Husband-64401-1.htm A US woman suffering from a serious genetic defect says she is willing to marry anyone with a good health plan. She is so desperate that she has uploaded her appeals on the You Tube and also set up a website inviting suitors. Indeed while President Obama, fighting as he does his own desperate battle for survival, has already pushed his healthcare agenda quite down his list of priorities, it is people at large who have to pay for the nasty political battles on the Capitol Hill. Terry Carlson, a 45-year-old ...]]> http://www.medindia.net/news/US-Woman-With-Genetic-Defect-Looking-For-Healthcare-Husband-64401-1.htm http://www.medindia.net/news/Understanding-Genetic-Defect-in-Myotonic-Muscular-Dystrophy-64181-1.htm In a new research on the genetic defect behind myotonic muscular dystrophy, scientists have found that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins. The study showed that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role. Co-author Manuel Ares, professor of molecular, cell, and developmental biology at ...]]> http://www.medindia.net/news/Understanding-Genetic-Defect-in-Myotonic-Muscular-Dystrophy-64181-1.htm http://www.medindia.net/news/Researchers-Understand-Effects-of-Genetic-Defect-in-Myotonic-Muscular-Dystrophy-64141-1.htm Studies on the genetic defect behind myotonic muscular dystrophy has revealed that the mutation affects an array of metabolic pathways in muscle cells through its effects on two key proteins. A study published in INature Structural (and) Molecular Biology/I shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role. Each of the affected proteins interacts with an ...]]> http://www.medindia.net/news/Researchers-Understand-Effects-of-Genetic-Defect-in-Myotonic-Muscular-Dystrophy-64141-1.htm http://www.medindia.net/news/New-Discovery-may-Reverse-Cleft-Palate-in-Womb-61773-1.htm One of the most common congenital birth defects in humans, a cleft palate, till date has only complex surgical treatments. But now there may be a way to cure it in the womb itself. According to Yang Chai, the study's principal investigator, close regulation of important signalling molecules during palate formation may help reverse the onset of cleft palate. Chai said protein Shh must remain within a certain level in a developing fetus in order for a proper palate to form....]]> http://www.medindia.net/news/New-Discovery-may-Reverse-Cleft-Palate-in-Womb-61773-1.htm http://www.medindia.net/news/Research-Team-Links-Genetic-Defect-to-Vitamin-A-Deficiency-in-Women-61141-1.htm Nearly half of the British women might be lacking an important source of vitamin A due to previously undetected genetic defect. The vitamin helps the immune system ward off common infections such as flu and is important for healthy skin. Although dairy products and eggs are known as a rich source of vitamin A, another key source is beta-carotene, the orange pigment in carrots, which is converted into the vitamin by the body. However, University of Newcastle team has identified a genetic ...]]> http://www.medindia.net/news/Research-Team-Links-Genetic-Defect-to-Vitamin-A-Deficiency-in-Women-61141-1.htm http://www.medindia.net/news/Meghalaya-Hospital-Treats-Cleft-Lip-Patients-Free-of-Cost-58757-1.htm Taking a cue from 'Smile Pinki', an Oscar winning documentary, a hospital in Meghalaya provides free treatment to cleft patients. Woodland hospital in Shillong has been providing a ray of hope to impoverished cleft patients by treating them for free. "It is one of the commonest congenital deformity and it is mainly hereditary lack nutrition and vitamins in mothers which are main causes for incident," said Werlok Kharshiing, plastic surgeon at woodland hospital. Asma, from Baitbari village ...]]> http://www.medindia.net/news/Meghalaya-Hospital-Treats-Cleft-Lip-Patients-Free-of-Cost-58757-1.htm http://www.medindia.net/news/Cleft-Lip-and-Palate-Genes-More-Important-Than-Thought-48467-1.htm After comparing 500,000 snippets of human DNA, scientists at the University of Bonn have found that people with cleft lip and palate are frequently found to have a genetic variant on chromosome 8, which may be linked with the disease. Cleft lips and palates are among the most frequent innate abnormalities in children and is usually characterised by a gap remaining between lip, jaw and sometimes the palate, because different tissue processes of the face and mouth area do not fuse together or do so insufficiently....]]> http://www.medindia.net/news/Cleft-Lip-and-Palate-Genes-More-Important-Than-Thought-48467-1.htm http://www.medindia.net/news/New-Discovery-May-Help-To-Re-grow-Missing-Teeth-Prevent-Cleft-Palate-48066-1.htm In a breakthrough discovery, scientists have found that a system of opposing genetic forces determines why mammals develop a single row of teeth, while sharks sport several. The study suggests that carefully understanding the genetic program may prove helpful for scientists to re-grow missing teeth and prevent cleft palate, one of the most common birth defects. Gene expression is the process by which information stored in genes is converted into proteins that ...]]> http://www.medindia.net/news/New-Discovery-May-Help-To-Re-grow-Missing-Teeth-Prevent-Cleft-Palate-48066-1.htm http://www.medindia.net/news/Short-Documentary-on-Cleft-Lip-Bags-Oscar-47848-1.htm Residents of Dabai of Uttar Pradesh huddled together during the wee hours of Monday and prayed for the success of the documentary film 'Smile Pinky' based on the life of a girl from their village. Their prayers seem to have been answered as 'Smile Pinky' bagged an Oscar for best short documentary in the USA. "We have been sitting in front of the television. We feel that when she returns successful, our village will become popular and all of us would progress," said Victoria, a villager. ...]]> http://www.medindia.net/news/Short-Documentary-on-Cleft-Lip-Bags-Oscar-47848-1.htm http://www.medindia.net/news/Mechanism-of-Cleft-Palate-Formation-Identified-40532-1.htm An alternate pathway the leads to palate development may have been identified by experts at the University Of Southern California School Of Dentistry. Yang Chai, a professor and director of the Center for Craniofacial Molecular Biology, has revealed that his team made this advance while scrutinizing the transforming growth factor beta (TGF-a) family's role in palate formation problems. "For instance, we've learned that when someone has a haploid insufficiency and is missing one copy of ...]]> http://www.medindia.net/news/Mechanism-of-Cleft-Palate-Formation-Identified-40532-1.htm http://www.medindia.net/news/Best-Time-to-Perform-Cleft-Palate-Surgery-is-When-the-Child-Reaches-Eight-36626-1.htm A new research has suggested that the optimal time to conduct cleft palate surgery is when a child is older. Dr. Damir Matic, a scientist with Lawson Health Research Institute in London, Ontario is changing the way cleft palate surgeries are performed. He has been conducting research to determine the optimal time to close the gum tissue of cleft palate patients and found that it is best to wait until the child is older. Timing to conduct this type of surgery has been a controversial ...]]> http://www.medindia.net/news/Best-Time-to-Perform-Cleft-Palate-Surgery-is-When-the-Child-Reaches-Eight-36626-1.htm http://www.medindia.net/news/Gene-Linked-to-Cleft-Lip-and-Palate-Identified-35881-1.htm A gene called TFAP2A (Activating Enhancer-Binding Protein), has been linked to Branchio-Oculo-Facial syndrome (BOFS)by scientists at Boston University School of Medicine (BUSM). BOFS is characterized by frequent cleft lip and palate. The team discovered that deletions or mutations within the TFAP2A gene cause distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS), characterised by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, and frequently cleft lip and palate....]]> http://www.medindia.net/news/Gene-Linked-to-Cleft-Lip-and-Palate-Identified-35881-1.htm http://www.medindia.net/news/Genetic-Defect-Raises-Heart-Attack-Risk-Among-Smokers-32997-1.htm A new study has unearthed evidence that a common genetic defect significantly increases a smoker's risk of an early heart attack. Dr. Arthur Moss, director of the Heart Research Follow-up Program at the University of Rochester Medical Center, says that as much as 60 to 70 per cent of the population has a gene defect that makes smokers vulnerable to a heart attack. Among the study participants, said the researcher, heavy smokers with the same common gene variant experienced a heart attack when they were around 52 years old....]]> http://www.medindia.net/news/Genetic-Defect-Raises-Heart-Attack-Risk-Among-Smokers-32997-1.htm http://www.medindia.net/news/Cleft-Palate-Mechanism-Revealed-by-Study-on-Zebrafish-32919-1.htm Cleft palate is a common congenital malformity that is characterised by a split in the roof of the mouth that makes it difficult for one to speak. The University of Oregon scientists say that a genetic mutation in zebrafish has brought to light the mechanism that leads to this disorder. The new findings attain significance because many molecular pathways in zebrafish are present in humans. During the study, the 10-member research team isolated a disruption in early developmental signalling involving ...]]> http://www.medindia.net/news/Cleft-Palate-Mechanism-Revealed-by-Study-on-Zebrafish-32919-1.htm http://www.medindia.net/news/Zurich-NGO-to-Set-Up-More-Cleft-Lip-Surgery-Centres-in-India-26415-1.htm While a child with cleft lip is born every three minutes in the world, India has one of the highest number of cases, says Hermann F. Sailer, president of the Cleft-Children International (CCI), based in Zurich, Switzerland. It is estimated that close to 15 children million untreated cases are in India alone. About 32,000 to 35,000 children born every year with cleft lip and palate. CCI is a non-profit foundation operating on children affected by cleft lip and palate. It is currently providing ...]]> http://www.medindia.net/news/Zurich-NGO-to-Set-Up-More-Cleft-Lip-Surgery-Centres-in-India-26415-1.htm http://www.medindia.net/news/view_news_main.asp?x=18315 Mice engineered to have cleft palates can be rescued in utero by injecting the mothers with a small molecule to correct the defect, say scientists at the Stanford University School of Medicine and Lucile Packard Children's Hospital. In addition to shedding light on the biology of cleft palate, the research raises hopes that it may one day be possible to prevent many types of human birth defects by using a similar vaccination-type technique in pregnant women likely to have affected fetuses. "This ...]]> http://www.medindia.net/news/view_news_main.asp?x=18315 http://www.medindia.net/news/view_news_main.asp?x=17848 A new study finds that women who take folic acid supplements during their early pregnancy can substantially reduce the risk of cleft lip in their baby up to 40%. The Study results were published in the online issue of the British Medical Journal. Folic acid, a synthetic compound of a B vitamin found in green leafy vegetables, has been recommended to prevent neural tube disorders such as spina bifida. But its impact on cleft clip has been less clear. Now, the scientists have studied the effect ...]]> http://www.medindia.net/news/view_news_main.asp?x=17848 http://www.medindia.net/news/view_news_main.asp?x=13972 A new study has helped to determine the psychosocial effects of cleft lip and/or palate among children and young adults, finding teasing to be a predictor of behavioral problems. This study is published in the latest issue of The Cleft Palate-Craniofacial Journal. The study included 160 children and young adults with cleft lip and/or palate and an additional 113 with no clefting. Anxiety, self-esteem, depression, behavioral problems, unhappiness with facial appearance, and social functioning-including ...]]> http://www.medindia.net/news/view_news_main.asp?x=13972 http://www.medindia.net/news/view_news_main.asp?x=12266 Efforts are on to set up a trust fund for the treatment of a 14-month-old Malaysian Indian baby who is suffering from a rare disease. L. Sreeram, who was born at the University Malaya Medical Centre, is suffering from the rare Pierre Robin Syndrome, according to reports here. The disease is a condition that is present at birth marked by a very small lower jaw (micrognathia). The tongue tends to fall back and downward and there is cleft soft palate. Sreeram can smile and walk, but he cannot speak....]]> http://www.medindia.net/news/view_news_main.asp?x=12266 http://www.medindia.net/news/view_news_main.asp?x=2924 http://www.medindia.net/news/view_news_main.asp?x=2924 http://www.medindia.net/news/view_news_main.asp?x=1053 http://www.medindia.net/news/view_news_main.asp?x=1053 http://www.medindia.net/news/view_news_main.asp?x=1039 http://www.medindia.net/news/view_news_main.asp?x=1039